von Willebrand Disease

Clinical Presentation

von Willebrand disease (VWD) is associated with mucosal or trauma-related bleeding in affected individuals. It results from either a quantitative or qualitative deficiency of plasma von Willebrand factor (VWF), a glycoprotein with essential roles in primary haemostasis and as a carrier of coagulation factor VIII (FVIII) in the circulation.

Type 1 VWD is a partial quantitative deficiency with residual “normal” VWF (70% of cases), most cases are dominantly inherited.

Type 2 VWD is a qualitative deficiency with residual defective VWF (25% of cases) and is divided into four types.

Supporting information

F8 & VWF analysis for patients with reduced FVIII:C levels

Mutations in both F8 and VWF can result in reduced FVIII:C levels. Analysis of both genes can be undertaken concurrently where it is not clear from the individual’s family history which gene is more likely to result in their bleeding disorder.

Indications for Testing

Diagnostic testing to confirm a clinical diagnosis of haemophilia A or von Willebrand disease.

Testing in relatives of an affected individual for clinical management and genetic counselling. These referrals require that the pathogenic mutation(s) has been identified in the index case.

Utility

Patients typically have FVIII:C levels in the range 5-40 IU/dL. Sequencing of the protein-coding regions is expected to detect up to 90% of disease alleles in individuals with an inherited deficiency.

Test options available

(please select from dropdown box at the top of the page or click here)